Cryptorchidism, and Sparse scalp hair

Diseases related with Cryptorchidism and Sparse scalp hair

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Sparse scalp hair that can help you solving undiagnosed cases.


Top matches:

High match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

High match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

High match BARTSOCAS-PAPAS SYNDROME


Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

BARTSOCAS-PAPAS SYNDROME Is also known as pterygium, popliteal, lethal type|autosomal recessive popliteal pterygium syndrome|bps|lethal popliteal pterygium syndrome|multiple pterygium syndrome, aslan type|bartsocas-papas syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BARTSOCAS-PAPAS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

High match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

High match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

High match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

High match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1


ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

High match EEC SYNDROME


EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

High match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Sparse scalp hair

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cryptorchidism and Sparse scalp hair. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Joint laxity Sparse hair Cleft palate Global developmental delay Osteoporosis Sparse and thin eyebrow Cutis laxa Hearing impairment Growth hormone deficiency Blepharophimosis Abnormality of cardiovascular system morphology Muscular hypotonia Microtia Generalized hypotonia Obesity Seizures Downslanted palpebral fissures Dilatation Joint dislocation Bladder diverticulum Pes planus Abnormal facial shape Hydronephrosis Joint hypermobility Single transverse palmar crease Thick lower lip vermilion Oral cleft Depressed nasal bridge Cleft upper lip Wide nasal bridge Recurrent infections Hypertelorism Inguinal hernia Low-set ears Flexion contracture Intrauterine growth retardation Syndactyly Scoliosis Toe syndactyly Hypoplasia of the maxilla Hyperextensible skin Cleft lip Fine hair Renal agenesis Small for gestational age Hypogonadotrophic hypogonadism Hypoplasia of the thymus Severe short stature Thick eyebrow Muscle weakness Micropenis Sparse eyelashes

Rare Symptoms - Less than 30% cases


Duplicated collecting system Abnormality of the nasopharynx Nail pits Motor delay Ureterocele Dacryocystitis Urethral atresia Malar flattening Cognitive impairment Transverse vaginal septum Absence of Stensen duct Pectus excavatum Pulmonic stenosis Respiratory distress Cerebellar atrophy Hypoplastic toenails Narrow palpebral fissure Hypermetropia Renal hypoplasia/aplasia Absent eyebrow Bilateral cryptorchidism Mask-like facies Prominent forehead Dry skin Coarse hair Hypogonadism Atrial septal defect Eyelid coloboma Prominent superficial veins Intellectual disability, severe Feeding difficulties Brachycephaly Absent speech Hydroureter Xerostomia Hypoplastic nipples Ectrodactyly Carious teeth Accelerated skeletal maturation Widely spaced teeth Keratitis Split foot Hypodontia Vesicoureteral reflux Ectodermal dysplasia Narrow nasal bridge Microdontia Hypohidrosis Renal dysplasia Blepharitis Depressed nasal tip Selective tooth agenesis Dysuria Abnormality of the genital system Autism Central diabetes insipidus Polydactyly Autistic behavior Sparse pubic hair Hyperkeratosis Photophobia Full cheeks Smooth philtrum Sparse axillary hair Generalized hypopigmentation Fair hair Blue irides Triangular face Broad nasal tip Short phalanx of finger Broad forehead Omphalocele Bronchiectasis Talipes equinovarus Varicose veins Abnormality of lipid metabolism Micrognathia Short palpebral fissure Eclabion Generalized osteoporosis Nevus Sensorineural hearing impairment Atypical scarring of skin Midface retrusion Long eyelashes Recurrent respiratory infections Short nose Everted lower lip vermilion Hirsutism Bruising susceptibility Thin skin Bowing of the long bones Umbilical hernia Coarse facial features Pectus carinatum Long philtrum Sepsis Macrocephaly Brachydactyly High palate Short neck Urethral stenosis Narrow mouth Joint hyperflexibility Broad thumb Telecanthus Wide intermamillary distance Hypoglycemia Narrow chest Plagiocephaly Split hand Finger syndactyly Choanal atresia Fever Aortic valve stenosis Elbow dislocation Sparse eyebrow Forearm undergrowth Short philtrum Dermal translucency Lipodystrophy Scarring Large joint dislocations Talipes equinovalgus Kyphoscoliosis Radioulnar synostosis Abnormality of the foot Bowing of the legs Anal atresia Absent earlobe Pulmonary hypoplasia Elbow flexion contracture Coxa valga Abnormality of skin pigmentation Nail dysplasia Prominent scalp veins Advanced ossification of carpal bones Flat forehead Long toe Cutaneous photosensitivity Soft, doughy skin Immunodeficiency Abnormality of primary teeth Ulnar bowing Bifid uvula Poor wound healing Small face Progeroid facial appearance Skeletal dysplasia Mild global developmental delay Flat face Abnormality of the nervous system Posteriorly rotated ears Palmoplantar cutis gyrata Periodontitis Facial wrinkling Conductive hearing impairment Phalangeal dislocation Gingivitis Osteopenia Genu recurvatum Short clavicles Proportionate short stature Curly hair Congenital diaphragmatic hernia Blue sclerae Arachnodactyly Slender toe Atrophic scars Testicular torsion Slow-growing scalp hair Oligohydramnios Generalized-onset seizure Spastic tetraparesis Wormian bones Thickened skin Chronic diarrhea Abnormality of the face Abnormality of the metaphysis Choreoathetosis Progressive neurologic deterioration Tetraparesis Intellectual disability, profound Gastrointestinal hemorrhage Abnormal palate morphology Chorea Recurrent fractures Hypopigmentation of the skin Neurodegeneration Nausea and vomiting Malabsorption Severe global developmental delay Feeding difficulties in infancy Developmental regression Jaundice Shock Intracranial hemorrhage Cerebral atrophy Pili torti Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Woolly hair Metaphyseal widening Hypothermia Exostoses Hypopigmentation of hair Prolonged neonatal jaundice Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Dementia Behavioral abnormality Conjunctivitis Rectovaginal fistula Abnormality of dental enamel Hypoplasia of dental enamel Recurrent urinary tract infections Lymphoma Nail dystrophy Hypospadias Abnormal salivary gland morphology Semilobar holoprosencephaly Nasolacrimal duct obstruction Recurrent corneal erosions Heat intolerance Reduced number of teeth Anodontia Bilateral cleft lip Hypopituitarism Absent septum pellucidum Epiphora Hand polydactyly Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Oligodontia Cutaneous syndactyly Proximal placement of thumb Hypertonia Abnormality of the middle ear Diarrhea Fatigue Dysarthria Spasticity Generalized microdontia Periorbital hyperpigmentation Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Megacystis Thin nail Aplasia/Hypoplasia of the skin Inflammatory abnormality of the eye Aplasia/Hypoplasia of the nipples Slow-growing hair Entropion Lacrimation abnormality Anterior hypopituitarism Corneal erosion Taurodontia External ear malformation Aplasia/Hypoplasia of the thumb Proptosis Stereotypy Intellectual disability, mild Opacification of the corneal stroma Facial cleft Multiple cafe-au-lait spots Absent thumb Truncal obesity Aplasia/Hypoplasia of the eyebrow Anonychia Cupped ear Ectropion Pterygium Sacral dimple Short thumb Anal stenosis Cafe-au-lait spot Renal hypoplasia Small nail Ambiguous genitalia Underdeveloped nasal alae Confusion Talipes Arthrogryposis multiplex congenita Corneal opacity Microphthalmia Aplasia cutis congenita Median cleft lip Upper eyelid edema Unilateral renal hypoplasia Postnatal growth retardation Aggressive behavior Deeply set eye Delayed skeletal maturation Anteverted nares Symblepharon Bilateral cleft palate Sparse lower eyelashes Oral synechia Adactyly Hypoplastic male external genitalia Absent eyelashes Synostosis of joints Aplasia/Hypoplasia of the distal phalanges of the toes Popliteal pterygium Ankyloblepharon Sparse or absent eyelashes Short sternum Alopecia totalis Labial hypoplasia Hypoplastic scapulae Hypoplastic labia majora Skin tags Infra-orbital fold Abnormal lip morphology Hypotrichosis Paraplegia Sensory axonal neuropathy Horizontal nystagmus Gynecomastia Clumsiness Hypoplasia of penis Pigmentary retinopathy Progressive cerebellar ataxia Distal amyotrophy Retinal degeneration Peripheral axonal neuropathy Delayed puberty Retinal atrophy Spastic paraplegia Distal muscle weakness Pallor Hypothyroidism Gait ataxia Rod-cone dystrophy Frontal bossing Peripheral neuropathy Nystagmus Ataxia Chorioretinal atrophy Progressive gait ataxia Irregular dentition Gingival overgrowth Abnormality of the vasculature Palpebral edema Abnormality of the sternum Prolonged bleeding time High pitched voice Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Redundant skin Hypergonadotropic hypogonadism Decreased body weight Recurrent hypoglycemia High myopia Narrow forehead Overgrowth Thick vermilion border Ichthyosis Retrognathia Central heterochromia Long eyebrows Choroideremia Alopecia areata Titubation Wide mouth Synophrys Abnormality of the dentition Inverted nipples Thrombocytopenia Kyphosis Splenomegaly Respiratory insufficiency Hepatomegaly Hypertension Anemia Microtia, first degree Juvenile cataract Generalized neonatal hypotonia Long palpebral fissure Patent ductus arteriosus Obsessive-compulsive behavior Language impairment Bilateral ptosis Cerebral visual impairment Exotropia Amblyopia Small hand Iris coloboma Astigmatism Attention deficit hyperactivity disorder Clinodactyly Pneumonia Muscular hypotonia of the trunk Iron deficiency anemia Skeletal muscle atrophy Epicanthus Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Premature loss of teeth Long fingers Hepatosplenomegaly Unilateral renal agenesis Failure to thrive in infancy Tented upper lip vermilion Leukopenia Recurrent bacterial infections Lymphopenia Mitral regurgitation Pulmonary arterial hypertension Asthma Tapered finger Neutropenia Coloboma Anxiety Poor speech Low anterior hairline Dysphasia Aphasia Cone-shaped epiphysis Overfolded helix Short metatarsal Abnormality of the metacarpal bones Mutism Drooling Sandal gap Absence seizures Abnormality of epiphysis morphology Epileptic spasms Broad-based gait Status epilepticus Eczema Specific learning disability Short metacarpal Highly arched eyebrow High, narrow palate Wide nose Short palm Thin vermilion border Protruding tongue Abnormality of finger Neonatal hypotonia Prominent interphalangeal joints Thin upper lip vermilion Gastroesophageal reflux Hyperactivity Abnormal heart morphology Visual impairment Ptosis Cataract Strabismus Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent eyelashes Echolalia Curly eyelashes Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Therapeutic abortion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Encephalocele, related diseases and genetic alterations Myopia and Encephalocele, related diseases and genetic alterations Hepatomegaly and Gastroesophageal reflux, related diseases and genetic alterations Skeletal muscle atrophy and Rigidity, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more